title: Muscle involvement in mucolipidosis IV.
abstract: A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain the motor delay and hypotonia that are its most common presenting signs.
authors.affiliation: Pediatric Neurology Unit, Beilinson Medical Center, Petah Tiqva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Weitz
authors.forename: I
authors.initials: I
authors.lastname: Kramer
authors.forename: I
authors.initials: I
authors.lastname: Nissenkorn
authors.forename: Y
authors.initials: Y
authors.lastname: Shapira
authors.forename: E
authors.initials: E
authors.lastname: Ben-David
authors.forename: G
authors.initials: G
authors.lastname: Kohn
mesh_terms: D003228:Conjunctiva / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood; D004848:Epithelium / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009081:Mucolipidoses / Q000473:pathology*; D009132:Muscles / Q000473:pathology*
chemical_list: D003402:Creatine Kinase